1,720,963 research outputs found
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay
No full textClinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor dela
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure
No full textComplex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenital. We describe a follow-up patient with complex glycerol kinase deficiency who had appropriate intrauterine development, but who at 1 month of age manifested severe growth delay and psychomotor retardation. Targeted therapy did not bring about the regression of symptoms: both bodyweight and height were below the 3rd centile until 8 years of age, and his Griffith's Mental Development scale score was 71 at age 5 years
The influence of the tourniquet time on hematological testing for antidoping purposes
No full textHematological manipulation to optimize aerobic performances is a serious problem in elite and professional sports and the approach to identify blood doping is as vet challenging. In most cases, the current strategy contemplates a first stage of analysis, based on the application of arbitrary threshold for hemoglobin or hematocrit, followed by second-generation blood tests, or the adoption of an individual hematological passport. To establish the influence of preanalytical variables on the athletes' hematological profile, we compared hemoglobin, hematocrit, and reticulocytes count in 27 male professional cyclists after a mean time of 2.30 ± 0.12 tourniquet holding. Statistically significant differences were observed for hematocrit (+2.4%; p < 0.001) and hemoglobin measurements (+1.4%; p < 0.001), but not for the reticulocytes count (-1.9%; p = 0.170). In 4 out of 27 cases (15%), the variability of the hematocrit measurement exceeded the 4.1% desirable analytical quality specification for total error. Results of the present investigation further highlight the risk that unfulfillment of rigorous and standardized procedures for collection of blood specimens might increase the number of false positive testing and might lead to inappropriate sanctioning of a minority of clean athletes with hematocrit or hemoglobin values naturally elevated. Owing to the minor biological variability and the lesser susceptibility to variation of the preanalytical phase, the hemoglobin concentration might be a more suitable parameter than hematocrit for inclusion within laboratory testing to identify blood doping. © Georg Thieme Verlag KG
Prevalence and type of preanalytical errors on inpatient samples referred for complete blood count
No full textStability of blood cell counts, hematologic parameters and reticulocytes indexes on the Advia A120 hematologic analyzer
No full textDelayed sample analysis is not a rare circumstance in clinical and laboratory practice, especially when blood samples are shipped to distant centralized laboratories, when the analysis can not be readily performed, or when retesting is appropriate. In this study we sought to evaluate the stability of conventional and new hematologic parameters in blood specimens stored for as long as 24 hours at 4°C. Of the 21 hematologic parameters tested with the use of the Advia 120 hematologic analyzer (Bayer Diagnostics), means for paired samples of specimens differed significantly over the 24-hour storage period for hematocrit, main corpuscular volume, percentage of macrocytes, platelet count, main platelet volume, reticulocyte count and percentage, and reticulocyte hemoglobin content (all P < .01). We noted no significant changes in the other parameters tested or in the white blood cell differential. The overall distribution of the immature reticulocytes fractions remained substantially unchange..
K(3)EDTA Vacuum Tubes Validation for Routine Hematological Testing.
No full textBackground and Objective. Some in vitro diagnostic devices (e.g, blood collection vacuum tubes and syringes for blood analyses) are not validated before the quality laboratory managers decide to start using or to change the brand. Frequently, the laboratory or hospital managers select the vacuum tubes for blood collection based on cost considerations or on relevance of a brand. The aim of this study was to validate two dry K(3)EDTA vacuum tubes of different brands for routine hematological testing. Methods. Blood specimens from 100 volunteers in two different K(3)EDTA vacuum tubes were collected by a single, expert phlebotomist. The routine hematological testing was done on Advia 2120i hematology system. The significance of the differences between samples was assessed by paired Student's t-test after checking for normality. The level of statistical significance was set at P < 0.05. Results and Conclusions. Different brand's tubes evaluated can represent a clinically relevant source of variations only on mean platelet volume (MPV) and platelet distribution width (PDW). Basically, our validation will permit the laboratory or hospital managers to select the brand's vacuum tubes validated according to him/her technical or economical reasons for routine hematological tests
Brand of dipotassium EDTA vacuum tube as a new source of pre-analytical variability in routine haematology testing.
No full textThis study assesses the use of different dry K2 (dipotassium) EDTA vacuum tubes and whether or not they might represent a bias in haematological testing. Blood was collected in three dipotassium EDTA vacuum tubes from different manufacturers: Venosafe, Vacuette and Vacutainer. Samples were analysed on an Advia 2120i analyser. Significant differences among results and biases were compared with current quality specifications. Significant differences were found for haematocrit (HCT), mean corpuscular volume (MCV), white blood cell count (WBC) and platelet distribution width (PDW) when comparing Venosafe vs. Vacuette; for MCV, WBC and PDW when comparing Venosafe vs. Vacutainer; and for HCT and MCV when comparing Vacuette vs. Vacutainer. Clinically significant variations were observed for HCT and PDW in Venosafe vs. Vacuette; PDW in Venosafe vs. Vacutainer; and HCT and MCV in Vacuette vs. Vacutainer. The use of dipotassium EDTA vacuum tubes from different manufacturers represent a clinically relevant source of variation for HCT, MCV and PDW
K(3)EDTA Vacuum Tubes Validation for Routine Hematological Testing
No full textBackground and Objective. Some in vitro diagnostic devices (e.g, blood collection vacuum tubes and syringes for blood analyses) are not validated before the quality laboratory managers decide to start using or to change the brand. Frequently, the laboratory or hospital managers select the vacuum tubes for blood collection based on cost considerations or on relevance of a brand. The aim of this study was to validate two dry K(3)EDTA vacuum tubes of different brands for routine hematological testing. Methods. Blood specimens from 100 volunteers in two different K(3)EDTA vacuum tubes were collected by a single, expert phlebotomist. The routine hematological testing was done on Advia 2120i hematology system. The significance of the differences between samples was assessed by paired Student's t-test after checking for normality. The level of statistical significance was set at P < 0.05. Results and Conclusions. Different brand's tubes evaluated can represent a clinically relevant source of variations only on mean platelet volume (MPV) and platelet distribution width (PDW). Basically, our validation will permit the laboratory or hospital managers to select the brand's vacuum tubes validated according to him/her technical or economical reasons for routine hematological tests
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